Varaico: Literature-Extracted Genetic Variants

HMGCS2

160 papers

RefSeq Summary

The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived ...

Pfam Domains

HMG_CoA_synt_Naa 50–223UCSCHydroxymethylglutaryl-coenzyme A synthase N terminal

HMG_CoA_synt_Caa 224–506UCSCHydroxymethylglutaryl-coenzyme A synthase C terminal

Gene Aliases

HGNC Name

3-hydroxy-3-methylglutaryl-CoA synthase 2

HGNC Previous Names

3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial); 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_005518.4

p.G229Splc

c.685+2T>A

Surrounding Variants

4 papers

NM_005518.4

p.R228*

c.682C>T

1 paper

NM_005518.4

p.E227insFs

c.679_680insAG

4 papers

NM_005518.4

p.G219E

c.656G>A

2 papers

NM_005518.4

p.M216I

c.648G>T

2 papers

NM_005518.4

p.M216I

c.648G>C

2 papers

NM_005518.4

p.M216I

c.648G>A

1 paper

NM_005518.4

p.G212_A215delFs

c.636_643del8

16 papers

NM_005518.4

p.G212R

c.634G>C

18 papers

NM_005518.4

p.G212R

c.634G>A

1 paper

NM_005518.4

p.G209D

c.626G>A

4 papers

NM_005518.4

p.R206C

c.616C>T

8 papers

NM_005518.4

p.R188H

c.563G>A